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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-15691192-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15691192&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NDE1",
"hgnc_id": 17619,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_017668.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 17448,
"alphamissense_prediction": null,
"alphamissense_score": 0.1089,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "16",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Lissencephaly 4,NDE1-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005299478769302368,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_017668.3",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396354.6",
"protein_coding": true,
"protein_id": "NP_060138.1",
"strand": true,
"transcript": "NM_017668.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000396354.6",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017668.3",
"protein_coding": true,
"protein_id": "ENSP00000379642.1",
"strand": true,
"transcript": "ENST00000396354.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000396355.5",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379643.1",
"strand": true,
"transcript": "ENST00000396355.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 384,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1155,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000577101.6",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461729.2",
"strand": true,
"transcript": "ENST00000577101.6",
"transcript_support_level": 4
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3821,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001143979.2",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137451.1",
"strand": true,
"transcript": "NM_001143979.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3814,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911227.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581286.1",
"strand": true,
"transcript": "ENST00000911227.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911228.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581287.1",
"strand": true,
"transcript": "ENST00000911228.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911231.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581290.1",
"strand": true,
"transcript": "ENST00000911231.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911233.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581292.1",
"strand": true,
"transcript": "ENST00000911233.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911234.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581293.1",
"strand": true,
"transcript": "ENST00000911234.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2075,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963926.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633985.1",
"strand": true,
"transcript": "ENST00000963926.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000963928.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633987.1",
"strand": true,
"transcript": "ENST00000963928.1",
"transcript_support_level": null
},
{
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"aa_length": 335,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1008,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000963929.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633988.1",
"strand": true,
"transcript": "ENST00000963929.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 334,
"aa_ref": "T",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1005,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911229.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Thr190Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581288.1",
"strand": true,
"transcript": "ENST00000911229.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 334,
"aa_ref": "T",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1005,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911232.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Thr190Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581291.1",
"strand": true,
"transcript": "ENST00000911232.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 334,
"aa_ref": "T",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1005,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000934469.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Thr190Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604528.1",
"strand": true,
"transcript": "ENST00000934469.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 317,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5636,
"cdna_start": 647,
"cds_end": null,
"cds_length": 954,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674995.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502414.1",
"strand": true,
"transcript": "ENST00000674995.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 735,
"cds_end": null,
"cds_length": 918,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963930.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633989.1",
"strand": true,
"transcript": "ENST00000963930.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 283,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 853,
"cdna_start": 572,
"cds_end": null,
"cds_length": 853,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000572756.6",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460436.2",
"strand": true,
"transcript": "ENST00000572756.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 282,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3093,
"cdna_start": 647,
"cds_end": null,
"cds_length": 849,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674581.1",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502100.1",
"strand": true,
"transcript": "ENST00000674581.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 234,
"aa_ref": "T",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 338,
"cds_end": null,
"cds_length": 705,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
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